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Biomedical subjects

S Ayme

Publications and source records attributed to S Ayme.

At least 37 records · Page 2Linked to original sources
PubMed1990

[Evaluation of the effects of a support campaign on exclusive breast feeding at 1 month].

The aim of this study was to evaluate the effects of a support campaign on exclusive breast-feeding at one month postpartum among women having chosen breast-feeding. The study population consisted of all women (n = 657) having delivered in the Maternity Hospital in Pertuis (Area of Vaucluse-France) between January 1, 1987 and December 31, 1988. The first 151 women belonged to the control group not submitted to interventions while the following 506 composed the groups submitted to interventions. Interventions mainly aimed at providing information to women, supporting them after delivery, raising the awareness of their environment and educating Health professionals. Mothers were interviewed at the maternity and at their home one month later. Results showed that interventions significantly increased the number of women breast-feeding at one month (66% vs 52%-p less than 0.01) and reduced physical and medical problems related to breast-feeding (51% vs 60%-NS). To resolve these problems, Health professional education particularly appeared efficacious. The mothers' planned duration of breast-feeding was not significantly changed showing that actions were well conducted, as we wished, in the sense that the choice of mothers was respected. The greatest benefit was seen among the lowest social class (p less than 0.05), the less educated (p less than 0.01), and Maghrebin women (p less than 0.01).

Allied Health Personnel↗
PubMed1989

[Sensitivity of obstetrical ultrasonography in the prenatal diagnosis of major fetal anomalies].

With the aim of evaluating the sensitivity of obstetrical ultrasonography for prenatal screening of major birth defects, a retrospective study was conducted on 164 pregnancies which ended in the birth of an affected baby. The 164 cases had been reported to the Birth Defects Monitoring System of the Bouches du Rhône area by 5 maternity Hospitals between January 1, 1985 and December 31, 1987. Among these 164 cases, 50 were live births, 19 died after birth, 21 were stillbirths and 74 were terminations of pregnancy after prenatal diagnosis. Data from ultrasound reports were cross-checked with data from clinical examination at birth for live births, or from systematic protocol applied to every stillbirth or termination of pregnancy. The 164 notified cases had 196 major fetal anomalies. The results showed that the overall sensitivity of ultrasonography for detection of major fetal anomalies was 75%. The detection rate was assessed for each anomaly. The advised timing for morphological examination of the fetus by ultrasound in France is 20-22 and 30-32 weeks' gestation. Among the major fetal anomalies which were ultimately detected in utero, only 28% were screened before 22 or by 22 weeks' gestation and 14% were not by 32 weeks' gestation. This study underlines the effectiveness of this technique in prenatal diagnosis of major birth defects but also its limits, mainly linked to the lateness of many diagnoses.

Adult↗
PubMed1988

The acrocallosal syndrome.

The acrocallosal syndrome is characterized by peculiar facies, polydactyly of the hands and/or feet, and agenesis of the corpus callosum. Two unrelated 4-month-old boys with consanguineous parents are reported. Both exhibited the main features of the syndrome, but neither of them had partial reduplication of halluces. Consequently, pre-axial polydactyly of the feet is not considered to be a constant feature of the acrocallosal syndrome. The similarity of the acrocallosal syndrome to Greig syndrome is discussed, but it appears unlikely that the two syndromes are identical. Consanguinity in both cases is a strong argument in favour of a recessive mode of inheritance.

Agenesis of Corpus Callosum↗
PubMed1988

[Video display terminals and pregnancy. Evaluation of risks by consensus. Report of an INSERM working group].

INSERM established a working group to evaluate the effects of VDT work on pregnancy outcome. The group examined all available scientific papers concerning radiation emitted by VDTs, animal experimentation, and epidemiological studies. An estimation of risk was made for each outcome (congenital malformations, spontaneous abortion, stillbirth, premature birth, and low birthweight) according to a decisional algorithm, a method that gives preponderance to epidemiological arguments. On this basis, the group was able to show that the use of VDTs poses no increased risk of congenital anomalies, stillbirth, or premature birth. Consensus evaluation of divergent epidemiological results concluded that VDT work is not a risk factor significantly affecting spontaneous abortions. The risk of low birthweight could not be validly assessed.

Abortion, Spontaneous↗
PubMed1986

Direct estimation of the non-disjunction rate at first meiotic division in the human male. Preliminary results.

Chromosomal analysis of 100 second metaphases from 19 men attending an infertility clinic for various reasons was carried out to estimate the rate of non-disjunction occurring at first meiotic division. Second metaphases were selected on the basis of the good spread of their chromosomes. Karyotypes were performed using the relative length of the chromosomes and the centromeric index. Among aneuploid cells, only those containing a hyperhaploid complement (24) were regarded as informative. Of the 100 MII cells, two were hyperhaploid. The frequency of aneuploid MII cells following non-disjunction at first meiotic division is compared to the rate of aneuploid spermatozoa observed after using fertilization of zona-free golden hamster eggs.

Adult↗
PubMed1986

[Dissemination of genetic counseling and prenatal diagnosis: impact of the physicians' knowledge].

This article presents a survey carried out among 2,549 doctors (general practitioners, pediatricians, obstetricians and gynecologists) practicing in two south of France "departements" (administrative subdivisions): Bouches-du-Rhône and Hautes-Alpes. The influence of socio-demographic and professional characteristics on knowledge of prenatal diagnosis indicators is studied here for each specialty. While knowledge among general practitioners is apparently a product of their formal education, among gynecologists and obstetricians the most important factor seems to be professional experience. In France, the GP is a central figure in referrals for genetic counselling and prenatal diagnosis, hence the importance of improving his training and possibilities of continuing education.

Adult↗
PubMed1982

X-autosome translocations: cytogenetic characteristics and their consequences.

To define the principal characteristics of X-autosome translocations, the authors present a study of 105 cases, five of which are personal observations. The autosomal pairs 15, 21, and 22 are affected by t(X-Aut) more often than would be expected. The distribution of breakpoints on the X chromosome does not differ significantly from the expected distribution. The analysis of different patterns of inactivation seems to confirm that the inactivation could occur at random, but would be followed by a cellular selection favoring the better genetic balance. An estimate of the incidence of t(X-Aut) is proposed, based upon the conclusions that only one chromosome is susceptible to translocation in meiosis in both males and females and that all affected men will be sterile, as will be 50% of women.

Chromosome Banding↗
PubMed1980

Maternal age and origin of non-disjunction in trisomy 21.

The role of maternal age in chromosomal non-disjunction was investigated by studying 51 families in whom the origin of the meiotic anomaly had been identified. Results of this study were compared with previously published data. This comparison did not show any difference in mean maternal age, nor in distribution of maternal ages when the origin of non-disjunction was maternal, or paternal, or occurred at the first or second meiotic division. These results make questionable the role of maternal age in the birth of Down's syndrome children.

Chromosome Banding↗
PubMed1980

[Chromosome abnormalities: known risk factors].

The high incidence of chromosomal anomalies at birth and the severity of the resulting handicap led to examining their detectability by amniocentesis. With current indications for amniocentesis, the detection rate did not excede 30%. Consequently, it seems necessary to estimate the importance of other known risk factors and to calculate the resulting impact this would have on eventually broadening the indications for amniocentesis. A review of the literature led the authors to discuss the relative importance of each known risk factor and its role in public health.

Amniocentesis↗
PubMed1980

[Prenatal diagnosis of upper limb malformations].

Three children with thrombopenia and radial aplasia were examined at the Centre de Génétique Médicale of Marsielles from 1974 to 1976. In each case the genetic basis of the anomaly was discussed with the family at genetic counseling underlining the high risk of recurrence related to the autosomal recessive transmission. Each proband was the only child of the couple. In the first case the father and mother, each having one child from a previous marriage, decided to have no more children. In the second case, the use of fetoscopy and its limitations were discussed as another pregnancy was desired. However, the parents finally refused the procedure during pregnancy which yielded a second child with phocomelia who did not survive. In the third and most recent case the proband died. Since the young couple strongly desired another child, ultrasonic monitoring of pregnancy was cautiously suggested and its limitations clearly exposed. Echography was regularly repeated from the third month of pregnancy. The forearms were never detected on echography, nor on fetal radiography. Pregnancy was thus interrupted with prostaglandins at 21 weeks gestational age. On examination the fetus presented bilateral aplasia of the forearm. Based on these observations, the authors discuss the problems raised by prenatal diagnosis of upper limb malformations.

Ectromelia↗
PubMed1979

Abnormal childhood phenotypes associated with the same balanced chromosome rearrangements as in the parents.

Three patients have been detected because of abnormal phenotypes. Balanced chromosome rearrangements were found in their karyotypes, and in one of the parents in each case. In these three families the association of an abnormal phenotype and a balanced chromosome rearrangement may either be a chance happening or be induced by a submicroscopic loss of chromosome material, for which different position effects may be responsible, according to the case in question. These observations prompt us to ask what decision should be made relative to termination of pregnancy if such a rearrangement is found in amniotic cells in a family with a previous abnormal child.

Adult↗
PubMed1979

Origin of the extra chromosome in trisomy 21.

Of 61 families of children with trisomy 21, polymorphism of chromosome 21 elucidating the origin of the extra chromosome was found in 42. Nondisjunction was of paternal origin in 8 cases (19.04%) and the anomaly occurred with equal frequency during the first and second meiotic divisions. Maternal nondisjunction was demonstrated in 34 cases (80.95%), in which nondisjunction occurred by far the most often during the first meiotic division (29 cases). These results are in agreement with data from the literature, and suggest the existence of at least two different causes for chromosomal nondisjunction, the first being the same in both sexes and occurring in both meiotic divisions and the second specifically limited to the first meiotic division in the mother.

Chromosome Banding↗